Mutagenetix > Incidental Mutation

Incidental Mutation 'R7102:Ythdf1'

550886

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH domain family 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7102 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180911522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 300 (T300I)

Ref Sequence

ENSEMBL: ENSMUSP00000104504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037299] [ENSMUST00000108876] [ENSMUST00000124666]

AlphaFold

P59326

Predicted Effect

probably damaging
Transcript: ENSMUST00000037299
AA Change: T273I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: T273I

Domain	Start	End	E-Value	Type
low complexity region	47	63	N/A	INTRINSIC
low complexity region	133	153	N/A	INTRINSIC
low complexity region	279	326	N/A	INTRINSIC
Pfam:YTH	388	526	4.2e-51	PFAM
low complexity region	540	557	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108876
AA Change: T300I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: T300I

Domain	Start	End	E-Value	Type
low complexity region	74	90	N/A	INTRINSIC
low complexity region	160	180	N/A	INTRINSIC
low complexity region	306	353	N/A	INTRINSIC
Pfam:YTH	416	551	1.9e-46	PFAM
low complexity region	567	584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124666

SMART Domains

Protein: ENSMUSP00000116665
Gene: ENSMUSG00000038848

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	126	146	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,595	T53S	probably benign	Het
4932438A13Rik	T	G	3: 36,940,798	Y990D	probably damaging	Het
Abca13	A	T	11: 9,335,215	H3283L	probably damaging	Het
Abcb1a	T	G	5: 8,694,072	S233A	probably benign	Het
Actr10	T	C	12: 70,953,031		probably null	Het
Acvr2b	C	T	9: 119,432,553	A380V	probably damaging	Het
Adcy5	A	G	16: 35,299,625	E1168G	probably damaging	Het
Akap12	C	T	10: 4,353,226	T117I	probably damaging	Het
Alox5	T	A	6: 116,413,468	Y516F	probably benign	Het
Amigo2	T	C	15: 97,245,860	N227S	probably damaging	Het
Anpep	C	A	7: 79,836,313	V554L	probably benign	Het
Ap5b1	T	A	19: 5,570,187	V545E	possibly damaging	Het
Bbs9	C	T	9: 22,579,553	L326F	probably damaging	Het
Cadps	C	T	14: 12,603,738	G361R	probably damaging	Het
Ccdc57	C	A	11: 120,921,731	E66*	probably null	Het
Ccr6	G	A	17: 8,256,187	V75I	probably benign	Het
Cdk6	T	C	5: 3,520,709	F300S	probably damaging	Het
Cenpb	A	C	2: 131,178,879	V333G	probably damaging	Het
Clca4a	T	C	3: 144,961,909	I434V	probably benign	Het
Coro2b	T	A	9: 62,421,385	D447V	possibly damaging	Het
Cpeb3	T	C	19: 37,174,719	S86G	probably benign	Het
Cry2	C	A	2: 92,413,093	A468S	probably damaging	Het
Csf2rb2	T	C	15: 78,297,072	Y40C	probably damaging	Het
Ddx49	T	A	8: 70,301,076	T48S	probably damaging	Het
Dip2c	A	G	13: 9,604,536	T727A	probably benign	Het
Ebf4	A	T	2: 130,309,731	I183F	probably benign	Het
Elavl3	G	T	9: 22,018,729	P293Q	possibly damaging	Het
Esyt1	A	T	10: 128,516,236	L768Q	probably damaging	Het
Fam45a	T	A	19: 60,832,596	M272K	probably damaging	Het
Fat2	G	A	11: 55,283,434	P2151L	probably damaging	Het
Fgfbp3	G	T	19: 36,919,206	A4E	possibly damaging	Het
Flg	T	A	3: 93,293,028	V277D	unknown	Het
Fndc3b	T	C	3: 27,470,234	D459G	possibly damaging	Het
Fras1	A	G	5: 96,571,041	Q438R	probably benign	Het
Glipr1l2	A	T	10: 112,092,425		probably null	Het
Gm7347	T	A	5: 26,057,384		probably null	Het
Grm6	G	A	11: 50,862,977	V703I	possibly damaging	Het
Gtf2h1	T	A	7: 46,819,126	V496E	probably benign	Het
Ifna12	A	G	4: 88,603,151	L53P	probably damaging	Het
Invs	T	A	4: 48,407,674	S550T	probably benign	Het
Irak2	G	T	6: 113,686,849	C453F	probably damaging	Het
Itih2	G	T	2: 10,105,763	Q506K	probably benign	Het
Kidins220	T	C	12: 25,057,663	I1614T	probably benign	Het
Krtap5-3	T	A	7: 142,202,255	C276*	probably null	Het
Lama3	T	A	18: 12,552,813	M1128K	possibly damaging	Het
Lhfpl4	C	T	6: 113,194,145	A27T	possibly damaging	Het
Lyplal1	A	G	1: 186,100,327	V77A	probably damaging	Het
Malrd1	A	T	2: 16,142,303	E1985D	unknown	Het
Mlx	A	C	11: 101,088,976	Q161P	probably benign	Het
Mroh2b	T	A	15: 4,948,003	M1279K	probably benign	Het
Myh7b	A	G	2: 155,622,199	E540G	probably damaging	Het
Neb	T	A	2: 52,304,055	D653V	probably damaging	Het
Nek10	T	A	14: 14,828,517	L113Q	probably damaging	Het
Nlrp4c	T	A	7: 6,065,709	L203*	probably null	Het
Ntpcr	T	A	8: 125,730,055	C5S	unknown	Het
Nwd1	A	G	8: 72,695,329	D1001G	probably damaging	Het
Olfr1184	T	A	2: 88,487,148	C139S	probably damaging	Het
Olfr294	C	T	7: 86,616,267	C126Y	probably benign	Het
Olfr536	T	A	7: 140,504,316	T48S	probably benign	Het
Olfr784	A	C	10: 129,388,167	D178A	probably damaging	Het
Osbpl3	T	A	6: 50,320,135	S564C	probably damaging	Het
Pax6	C	A	2: 105,692,259	P264T	probably damaging	Het
Plppr4	T	C	3: 117,323,183	R342G	probably damaging	Het
Prg4	C	T	1: 150,452,254	C220Y	probably damaging	Het
Prune2	T	A	19: 17,121,213	D1360E	probably benign	Het
Ranbp2	T	A	10: 58,463,950	S469T	probably damaging	Het
Rbfox1	A	T	16: 7,369,834	K43N	probably benign	Het
Rgs22	T	C	15: 36,122,313	D25G	probably damaging	Het
Rnf113a2	G	A	12: 84,417,771	G146S	probably damaging	Het
Sbpl	T	A	17: 23,954,634	K55*	probably null	Het
Scel	G	A	14: 103,543,832	W138*	probably null	Het
Scgb2b19	T	C	7: 33,280,286	I12V	probably null	Het
Scn9a	T	A	2: 66,549,015	M358L	probably damaging	Het
Sdk2	C	A	11: 113,842,690	E924*	probably null	Het
Sipa1l3	T	C	7: 29,348,587	Q1292R	possibly damaging	Het
Skint4	G	A	4: 112,118,101	G86D	probably damaging	Het
Slc28a3	C	T	13: 58,588,214	V57I	probably benign	Het
Slc9a4	C	T	1: 40,580,639	P42S	probably benign	Het
Slc9a4	T	C	1: 40,623,399	S609P	probably damaging	Het
Slitrk1	T	A	14: 108,912,629	T217S	probably benign	Het
Spindoc	C	T	19: 7,358,442	R327H	probably benign	Het
Stk36	T	C	1: 74,622,223	S470P	probably benign	Het
Sypl	C	T	12: 32,974,255	P196L	probably benign	Het
Tekt4	T	A	17: 25,474,744	I285N	probably damaging	Het
Tgm5	T	A	2: 121,046,498	I686F	possibly damaging	Het
Thsd4	C	A	9: 59,976,304	R933L	probably damaging	Het
Treml1	T	A	17: 48,366,672	I237N	probably damaging	Het
Txndc16	T	C	14: 45,205,382	I119V	probably benign	Het
Ubr3	C	A	2: 69,897,822	N176K	probably damaging	Het
Vit	A	G	17: 78,624,997	Y511C	probably damaging	Het
Vwa5b2	G	A	16: 20,604,234	G994D	probably benign	Het
Wdr63	A	T	3: 146,055,704	S632R	possibly damaging	Het
Wnk1	T	C	6: 119,948,307	T1648A	unknown	Het
Zan	A	G	5: 137,454,200		probably null	Het
Zbbx	A	G	3: 75,112,094	L103P	probably benign	Het
Zfp105	A	G	9: 122,929,804	D180G	probably damaging	Het
Zfp114	T	A	7: 24,180,658	L144Q	possibly damaging	Het
Zfp128	T	C	7: 12,890,472	C256R	probably damaging	Het

Other mutations in Ythdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Ythdf1	APN	2	180911693	missense	probably damaging	0.99
IGL03066:Ythdf1	APN	2	180911546	missense	probably damaging	1.00
Agitated	UTSW	2	180919133	critical splice donor site	probably null
R1258:Ythdf1	UTSW	2	180911310	missense	probably benign	0.05
R1541:Ythdf1	UTSW	2	180919143	missense	probably damaging	1.00
R1738:Ythdf1	UTSW	2	180911492	missense	probably benign	0.00
R1856:Ythdf1	UTSW	2	180910970	missense	probably damaging	1.00
R2169:Ythdf1	UTSW	2	180912114	missense	probably damaging	1.00
R4606:Ythdf1	UTSW	2	180912182	missense	probably damaging	0.97
R5296:Ythdf1	UTSW	2	180912188	missense	probably damaging	0.98
R6250:Ythdf1	UTSW	2	180911100	missense	probably damaging	1.00
R6254:Ythdf1	UTSW	2	180911150	missense	probably damaging	1.00
R6702:Ythdf1	UTSW	2	180919133	critical splice donor site	probably null
R7409:Ythdf1	UTSW	2	180911993	missense	probably damaging	1.00
R9069:Ythdf1	UTSW	2	180911064	missense	probably damaging	1.00
R9356:Ythdf1	UTSW	2	180912205	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TGCCCAAATGCTGCATTTCTG -3'
(R):5'- CAGTTGTCAACAGTGTGGCAC -3'

Sequencing Primer
(F):5'- GCATTTCTGTTTCGAGGAGCCAC -3'
(R):5'- TGGCACTGACTGGTGTCC -3'

Posted On

2019-05-15